CORE
🇺🇦
make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology
Authors
Ali A. Alfaiz
Ali Abdullah Alfaiz
+71 more
Joris Andrieux
Joris Andrieux
Jacques S. Beckmann
Jacques S. Beckmann
Frédérique Bena
Sven Bergmann
Ian Blumenthal
Sonia Bouquillon
Odile Boute
Dominique Campion
Jean Chiesa
Jacqueline Chrast
Mark J. Daly
Bruno Delobel
Bert B. de Vries
Gérard Didelot
Bénédicte Duban-Bedu
Richard J. Ellis
Giuliana Giannuzzi
Giuliana Giannuzzi
Brigitte Gilbert-Dussardier
Christelle Golzio
James F. Gusella
Louise Harewood
Louise Harewood
Loyse Hippolyte
Loyse Hippolyte
Bertrand Isidor
Sébastien Jacquemont
Sébastien Jacquemont
Nicholas Katsanis
Boris Keren
Frank Kooy
Jack A. Kosmicki
Zoltan Kutalik
Cédric Le Caignec
Maria Nicla Loviglio
Maria Nicla Loviglio
Aurélien Macé
Anne M. Maillard
Anne M. Maillard
Danielle Martinet
Michèle Mathieu-Dramard
Eugenia Migliavacca
Eugenia Migliavacca
Mafalda Mucciolo
Katrin Männik
Katrin Männik
Ann Nordgren
Edwin C. Oh
Katrin Ounap
Hilde Peeters
John A. Philipps
Ghislaine Plessis
Evica Rajcan-Separovic
Anita Rauch
Alessandra Renieri
Alexandre Reymond
Alexandre Reymond
Vanessa Siffredi
Michael E. Talkowski
Caroline Rooryck Thambo
Renaud Touraine
Mieke M. van Haelst
Ellen van Binsbergen
Ilse van der Werf
Mieke M. van Haelst
Anneke T. Vulto-van Silfhout
Robert Witwicki
Marianna Zazhytska
Flore Zufferey
Publication date
1 January 2015
Publisher
'Elsevier BV'
Doi
Cite
Abstract
The 16p11.2 600 kb copy-number variants (CNVs) are associated with mirror phenotypes on BMI, head circumference, and brain volume and represent frequent genetic lesions in autism spectrum disorders (ASDs) and schizophrenia. Here we interrogated the transcriptome of individuals carrying reciprocal 16p11.2 CNVs. Transcript perturbations correlated with clinical endophenotypes and were enriched for genes associated with ASDs, abnormalities of head size, and ciliopathies. Ciliary gene expression was also perturbed in orthologous mouse models, raising the possibility that ciliary dysfunction contributes to 16p11.2 pathologies. In support of this hypothesis, we found structural ciliary defects in the CA1 hippocampal region of 16p11.2 duplication mice. Moreover, by using an established zebrafish model, we show genetic interaction between KCTD13, a key driver of the mirrored neuroanatomical phenotypes of the 16p11.2 CNV, and ciliopathy-associated genes. Overexpression of BBS7 rescues head size and neuroanatomical defects of kctd13 morphants, whereas suppression or overexpression of CEP290 rescues phenotypes induced by KCTD13 under- or overexpression, respectively. Our data suggest that dysregulation of ciliopathy genes contributes to the clinical phenotypes of these CNVs. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved
Similar works
Full text
Open in the Core reader
Download PDF
Available Versions
Crossref
See this paper in CORE
Go to the repository landing page
Download from data provider
info:doi/10.1016%2Fj.ajhg.2015...
Last time updated on 05/06/2019
Utrecht University Repository
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:dspace.library.uu.nl:1874/...
Last time updated on 14/06/2016
NARCIS
See this paper in CORE
Go to the repository landing page
Download from data provider
Last time updated on 15/05/2019
Archivio della Ricerca - Università degli Studi di Siena
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:usiena-air.unisi.it:11365/...
Last time updated on 12/11/2016
Elsevier - Publisher Connector
See this paper in CORE
Go to the repository landing page
Download from data provider
Last time updated on 04/05/2017